Incidental Mutation 'R6802:Nrg1'
| ID |
533382 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrg1
|
| Ensembl Gene |
ENSMUSG00000062991 |
| Gene Name |
neuregulin 1 |
| Synonyms |
NDF, Hgl, GGF, HRG, HGL, SMDF, heregulin, D230005F13Rik, HRGalpha, 6030402G23Rik, ARIA, GGFII |
| MMRRC Submission |
044915-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
32299493-33381858 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32311292 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 476
(R476G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073884]
[ENSMUST00000207417]
[ENSMUST00000207470]
[ENSMUST00000208205]
[ENSMUST00000208488]
[ENSMUST00000208497]
[ENSMUST00000208598]
[ENSMUST00000208617]
[ENSMUST00000208819]
[ENSMUST00000209107]
|
| AlphaFold |
A0A140LHZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073884
AA Change: R476G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000073546
Gene: ENSMUSG00000062991
AA Change: R476G
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
78 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
180 |
198 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
232 |
N/A |
INTRINSIC |
|
EGF
|
236 |
277 |
7.88e-4 |
SMART |
|
Pfam:Neuregulin
|
295 |
688 |
5.3e-193 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207417
AA Change: R413G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207470
AA Change: R421G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208205
AA Change: R416G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208488
AA Change: R439G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208497
AA Change: R476G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208598
AA Change: R416G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000208617
AA Change: R416G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208819
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209107
AA Change: R428G
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for targeted null mutations exhibit heart defects, impaired development of Schwann cell precursors, cranial ganglia, and radial glia cells, and die at embryonic day 10.5-11.5. Heterozygotes are hyperactive with reduced NMDA receptors. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110004F10Rik |
A |
T |
7: 115,698,725 (GRCm39) |
K38N |
probably damaging |
Het |
| Agap3 |
T |
A |
5: 24,692,791 (GRCm39) |
I408N |
possibly damaging |
Het |
| Apold1 |
G |
A |
6: 134,960,693 (GRCm39) |
R49H |
probably damaging |
Het |
| Arfgef1 |
A |
T |
1: 10,259,677 (GRCm39) |
M597K |
probably benign |
Het |
| Bsn |
C |
T |
9: 107,987,823 (GRCm39) |
|
probably benign |
Het |
| Ccdc177 |
A |
T |
12: 80,806,057 (GRCm39) |
D72E |
probably damaging |
Het |
| Coa8 |
G |
T |
12: 111,717,625 (GRCm39) |
G162W |
probably benign |
Het |
| Ctdp1 |
A |
T |
18: 80,463,656 (GRCm39) |
|
probably null |
Het |
| Ctsj |
A |
T |
13: 61,150,888 (GRCm39) |
L190M |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,582,750 (GRCm39) |
F285S |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,314,516 (GRCm39) |
V4051E |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,006,925 (GRCm39) |
D243V |
probably damaging |
Het |
| Fat3 |
C |
T |
9: 15,826,357 (GRCm39) |
E4532K |
possibly damaging |
Het |
| Fbxo30 |
G |
T |
10: 11,167,224 (GRCm39) |
G649C |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,192,440 (GRCm39) |
S590P |
unknown |
Het |
| Focad |
G |
A |
4: 88,262,921 (GRCm39) |
V973I |
unknown |
Het |
| Glb1l3 |
T |
C |
9: 26,770,648 (GRCm39) |
|
probably null |
Het |
| Gli2 |
G |
A |
1: 118,769,795 (GRCm39) |
R586C |
probably damaging |
Het |
| Gm6401 |
T |
A |
14: 41,788,874 (GRCm39) |
E65V |
probably damaging |
Het |
| Gml2 |
T |
A |
15: 74,696,095 (GRCm39) |
L163H |
probably damaging |
Het |
| Grm6 |
A |
T |
11: 50,744,216 (GRCm39) |
Q229L |
probably benign |
Het |
| Gtf2h2 |
T |
C |
13: 100,617,051 (GRCm39) |
M252V |
probably benign |
Het |
| Hsf4 |
G |
A |
8: 106,001,300 (GRCm39) |
G309S |
probably damaging |
Het |
| Iglc1 |
T |
C |
16: 18,880,660 (GRCm39) |
|
probably benign |
Het |
| Irgq |
A |
G |
7: 24,231,076 (GRCm39) |
E89G |
probably benign |
Het |
| Kcnj6 |
T |
C |
16: 94,563,436 (GRCm39) |
N354S |
probably benign |
Het |
| Lrguk |
A |
G |
6: 34,039,392 (GRCm39) |
H301R |
probably damaging |
Het |
| Mc4r |
C |
A |
18: 66,992,488 (GRCm39) |
M208I |
probably benign |
Het |
| Mrpl15 |
A |
G |
1: 4,846,953 (GRCm39) |
S208P |
probably benign |
Het |
| Neil2 |
A |
G |
14: 63,429,263 (GRCm39) |
F10S |
probably damaging |
Het |
| Or12k7 |
A |
G |
2: 36,958,427 (GRCm39) |
M37V |
probably benign |
Het |
| Or4c100 |
A |
G |
2: 88,355,941 (GRCm39) |
T5A |
probably benign |
Het |
| Or8k22 |
G |
T |
2: 86,163,529 (GRCm39) |
T57K |
possibly damaging |
Het |
| Pacs1 |
T |
C |
19: 5,202,812 (GRCm39) |
I357V |
probably damaging |
Het |
| Pla2g15 |
T |
C |
8: 106,877,213 (GRCm39) |
L32P |
probably damaging |
Het |
| Pms1 |
A |
T |
1: 53,245,951 (GRCm39) |
S529R |
probably benign |
Het |
| Prkra |
A |
T |
2: 76,463,881 (GRCm39) |
D260E |
probably damaging |
Het |
| Qsox1 |
A |
C |
1: 155,671,139 (GRCm39) |
F127V |
probably damaging |
Het |
| Rabgap1l |
A |
T |
1: 160,561,250 (GRCm39) |
V161E |
probably benign |
Het |
| Robo1 |
T |
G |
16: 72,730,201 (GRCm39) |
V214G |
probably benign |
Het |
| Ryr2 |
G |
A |
13: 11,701,852 (GRCm39) |
A2935V |
probably damaging |
Het |
| Sgtb |
A |
T |
13: 104,268,558 (GRCm39) |
Q198L |
probably benign |
Het |
| Slc39a12 |
C |
T |
2: 14,424,896 (GRCm39) |
L376F |
probably benign |
Het |
| Socs1 |
C |
A |
16: 10,602,222 (GRCm39) |
V172L |
probably benign |
Het |
| Sprr2k |
A |
G |
3: 92,340,671 (GRCm39) |
|
probably benign |
Het |
| Tgm1 |
C |
T |
14: 55,949,939 (GRCm39) |
|
probably benign |
Het |
| Tph2 |
A |
T |
10: 115,020,778 (GRCm39) |
M6K |
probably damaging |
Het |
| Trav16 |
T |
A |
14: 53,980,941 (GRCm39) |
C43* |
probably null |
Het |
| Ttll5 |
A |
G |
12: 85,926,160 (GRCm39) |
E318G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,932,351 (GRCm39) |
I86N |
probably damaging |
Het |
| Zdhhc19 |
T |
C |
16: 32,325,176 (GRCm39) |
S165P |
possibly damaging |
Het |
| Zfp352 |
A |
T |
4: 90,113,437 (GRCm39) |
T526S |
probably benign |
Het |
|
| Other mutations in Nrg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00330:Nrg1
|
APN |
8 |
32,308,117 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00500:Nrg1
|
APN |
8 |
32,312,342 (GRCm39) |
splice site |
probably null |
|
|
IGL01150:Nrg1
|
APN |
8 |
32,407,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Nrg1
|
APN |
8 |
32,408,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02010:Nrg1
|
APN |
8 |
32,408,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02501:Nrg1
|
APN |
8 |
32,308,291 (GRCm39) |
splice site |
probably null |
|
|
IGL02741:Nrg1
|
APN |
8 |
32,312,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02754:Nrg1
|
APN |
8 |
32,316,391 (GRCm39) |
splice site |
probably benign |
|
|
IGL03056:Nrg1
|
APN |
8 |
32,311,451 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL03121:Nrg1
|
APN |
8 |
32,314,608 (GRCm39) |
splice site |
probably benign |
|
|
R6805_Nrg1_535
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0533:Nrg1
|
UTSW |
8 |
32,321,273 (GRCm39) |
splice site |
probably null |
|
|
R1170:Nrg1
|
UTSW |
8 |
32,327,695 (GRCm39) |
splice site |
probably benign |
|
|
R1405:Nrg1
|
UTSW |
8 |
32,407,855 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1405:Nrg1
|
UTSW |
8 |
32,407,855 (GRCm39) |
missense |
probably benign |
0.16 |
|
R1486:Nrg1
|
UTSW |
8 |
32,308,372 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1642:Nrg1
|
UTSW |
8 |
32,314,536 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1653:Nrg1
|
UTSW |
8 |
32,308,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1762:Nrg1
|
UTSW |
8 |
32,312,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1951:Nrg1
|
UTSW |
8 |
32,408,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Nrg1
|
UTSW |
8 |
32,408,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2912:Nrg1
|
UTSW |
8 |
32,308,595 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3786:Nrg1
|
UTSW |
8 |
32,311,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4513:Nrg1
|
UTSW |
8 |
32,967,105 (GRCm39) |
intron |
probably benign |
|
|
R4569:Nrg1
|
UTSW |
8 |
32,407,802 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4760:Nrg1
|
UTSW |
8 |
32,408,228 (GRCm39) |
nonsense |
probably null |
|
|
R4769:Nrg1
|
UTSW |
8 |
32,408,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4834:Nrg1
|
UTSW |
8 |
32,407,747 (GRCm39) |
missense |
probably benign |
|
|
R5058:Nrg1
|
UTSW |
8 |
32,314,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Nrg1
|
UTSW |
8 |
32,308,507 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5443:Nrg1
|
UTSW |
8 |
32,339,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5479:Nrg1
|
UTSW |
8 |
32,308,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5940:Nrg1
|
UTSW |
8 |
32,339,372 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6010:Nrg1
|
UTSW |
8 |
32,308,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6170:Nrg1
|
UTSW |
8 |
32,308,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6379:Nrg1
|
UTSW |
8 |
33,373,749 (GRCm39) |
start gained |
probably benign |
|
|
R6460:Nrg1
|
UTSW |
8 |
32,308,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6750:Nrg1
|
UTSW |
8 |
32,308,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6767:Nrg1
|
UTSW |
8 |
32,407,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6804:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6805:Nrg1
|
UTSW |
8 |
32,311,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Nrg1
|
UTSW |
8 |
32,308,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6930:Nrg1
|
UTSW |
8 |
32,308,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6963:Nrg1
|
UTSW |
8 |
32,407,690 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7070:Nrg1
|
UTSW |
8 |
32,339,465 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7176:Nrg1
|
UTSW |
8 |
32,458,064 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Nrg1
|
UTSW |
8 |
32,308,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7526:Nrg1
|
UTSW |
8 |
32,308,351 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7664:Nrg1
|
UTSW |
8 |
32,499,169 (GRCm39) |
splice site |
probably null |
|
|
R7881:Nrg1
|
UTSW |
8 |
32,328,352 (GRCm39) |
nonsense |
probably null |
|
|
R8013:Nrg1
|
UTSW |
8 |
32,439,951 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8342:Nrg1
|
UTSW |
8 |
32,312,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8759:Nrg1
|
UTSW |
8 |
32,308,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8783:Nrg1
|
UTSW |
8 |
32,448,629 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9319:Nrg1
|
UTSW |
8 |
32,323,204 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9429:Nrg1
|
UTSW |
8 |
32,308,592 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9535:Nrg1
|
UTSW |
8 |
32,439,995 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9632:Nrg1
|
UTSW |
8 |
32,407,621 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1088:Nrg1
|
UTSW |
8 |
32,408,033 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTGGCCGATTGGAATTAGATG -3'
(R):5'- AGCTGGAGTAATGGGCACAC -3'
Sequencing Primer
(F):5'- TACACCTGAAGGCTCCTGC -3'
(R):5'- TGGGCACACAGAAAGCATCATTTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation